ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) (rs151332923)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224065 SCV000281363 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224065 SCV000344096 uncertain significance not provided 2018-04-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764074 SCV000895028 uncertain significance COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 2018-10-31 criteria provided, single submitter clinical testing

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